RareLink Implementation Guide
2.0.0 - 2.0.0

RareLink Implementation Guide - Local Development build (v2.0.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

: Reference Genome Value Set - JSON Representation

Draft as of 2025-05-12

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{
  "resourceType" : "ValueSet",
  "id" : "reference-genome-vs",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet reference-genome-vs</b></p><a name=\"reference-genome-vs\"> </a><a name=\"hcreference-genome-vs\"> </a><a name=\"reference-genome-vs-en-US\"> </a><ul><li>Include these codes as defined in <a href=\"http://loinc.org\"><code>http://loinc.org</code></a><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href=\"https://loinc.org/LA14032-9/\">LA14032-9</a></td><td>NCBI Build 34 (hg16)</td></tr><tr><td><a href=\"https://loinc.org/LA14029-5/\">LA14029-5</a></td><td>GRCh37 (hg19)</td></tr><tr><td><a href=\"https://loinc.org/LA14030-3/\">LA14030-3</a></td><td>NCBI Build 36.1 (hg18)</td></tr><tr><td><a href=\"https://loinc.org/LA14031-1/\">LA14031-1</a></td><td>NCBI Build 35 (hg17)</td></tr><tr><td><a href=\"https://loinc.org/LA26806-2/\">LA26806-2</a></td><td>GRCh38 (hg38)</td></tr></table></li></ul></div>"
  },
  "url" : "https://rarelink.bih-charite.de/fhir/ValueSet/reference-genome-vs",
  "version" : "2.0.0",
  "name" : "ReferenceGenomeVS",
  "title" : "Reference Genome Value Set",
  "status" : "draft",
  "date" : "2025-05-12T08:03:20+00:00",
  "publisher" : "Berlin Institute of Health - Charité Universitätsmedizin Berlin",
  "contact" : [
    {
      "name" : "Berlin Institute of Health - Charité Universitätsmedizin Berlin",
      "telecom" : [
        {
          "system" : "url",
          "value" : "https://github.com/BIH-CEI/RareLink"
        },
        {
          "system" : "email",
          "value" : "adam.graefe@charite.de"
        }
      ]
    }
  ],
  "description" : "LOINC LA codes specifying the reference genome build.",
  "compose" : {
    "include" : [
      {
        "system" : "http://loinc.org",
        "concept" : [
          {
            "code" : "LA14032-9",
            "display" : "NCBI Build 34 (hg16)"
          },
          {
            "code" : "LA14029-5",
            "display" : "GRCh37 (hg19)"
          },
          {
            "code" : "LA14030-3",
            "display" : "NCBI Build 36.1 (hg18)"
          },
          {
            "code" : "LA14031-1",
            "display" : "NCBI Build 35 (hg17)"
          },
          {
            "code" : "LA26806-2",
            "display" : "GRCh38 (hg38)"
          }
        ]
      }
    ]
  }
}